Definition and causes

Hæmofili or haemophilia is a condition in which blood can not hardening as normal, increasing the tendency to bleeding.

Normally, the liver produces a number of substances calledcoagulation factors, Which help blood to clot (clot) and thereby stop bleeding. The cause of haemophilia is that produced a moment of coagulation factor VIII or IX. Lack of coagulation factor VIII called haemophilia A, and a lack of factor IX called haemophilia B. Hæmofili A 4-5gange more frequently than haemophilia B.

Hæmofili is a hereditary disease, caused by a defect (mutation) in arvematerialet on a so-called kønskromosom,X-chromosome. This means that only drengebørn born with the disease of anlægsbærende mothers (see details of succession in the article genetics . Girls can in theory also inherit the disease, but this is so unlikely that it never occurs in practice.

Hæmofili is a very rare disease, and the incidence is 15-20 among 100,000 drengefødsler. There are around. 300 with the disease in Denmark.

Symptoms of haemophilia

Typically there unprovoked or prolonged bleeding after the fall / blow of small boys. This is as big bruising or munity legislation, which keeps soft. This is characteristic of both haemophilia A and B, and the extent of the bleeding is linked to the severity of the disease.

Blødningen can take place anywhere in the body and is seen most frequently in:

Store muskelgrupper.

Vægtbærende part.

Tandkødet.

As drengebarnet to become more actively, observed a greater tendency to have bruising, and by the breakthrough of mælketænderne seen persistent bleeding in the gums. Pain in the major part (knee, ankle and skulderled) may be due to bleeding in the indent.

Precautions and diagnosis

If the parents are aware of the disease in the family, and the child is showing the characteristic symptoms, it is important that both child and mother are being examined. We can make blood tests and DNA testing to diagnose the disease, and it is possible both to examine whether the mother is anlægsbærer, and whether the child has the disease. It is also possible to screen an embryo for the disease by taking samples from the placenta or a fostervandsprøve.

Since the disease severity varies, we risk neglecting the milder cases of haemophilia in early childhood, so it is important to be aware of the symptoms throughout the child's upbringing.

When the disease is diagnosed, the sick, and a member of the family always carry an ID card containing information about the disease type, severity, the patient's blood and the usual treatment in case of hospitalisation in a foreign hospital or other emergencies.

Consideration of haemophilia

If a hæmofilipatient get a wound must be cleaned it thoroughly with soapy water, which should be put a bandage which press down on the wound. If the bleeding does not stop after this treatment, one should contact a doctor.

If the severity of haemophilia is great, the sick treated by the doctor or hospital. Here you can inject the specific coagulation factors that are missing. Treatment, indsprøjtningsmetoden and frequency of injections based on the severity of the bleeding and hæmofilitypen and is anyway a specialistopgave.

Prevention of bleeding at the haemophilia

It is appropriate to care for the child for situations where the risk of beating and munity legislation is great. Therefore, the child does not grow kontaktsport such as soccer, handball or basketball. However, the child run, cycle and swim without the high risk of blødningsskader.

Select and complications

All the bleeding must be treated as a starting point, and with the current technology and treatment in Denmark is the life of a boy with haemophilia as long as that for the average. If you are anlægsbærende mother, it should be noted that the risk of food a male child with haemophilia is 50%.